| H00638 | |
| H number | H00638 |
| Name | Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome; EEC syndrome |
| Description | Ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome is a rare autosomal dominant genetic disorder. This condition is a combination of ectrodactyly, the lobster claw-like deformities of the hands and feet, ectodermal dysplasia affecting skin, hair, and nails, and cleft lip with or without cleft palate. Other symptoms include anomalies of eyes and urinary tract. |
| Category | Congenital malformation |
| Network | - |
| Gene | TP63 [HSA:8626] [KO:K10149] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Isolated ectrodactyly is described in split-hand/foot malformation (H00471). |
| Other DBs | ICD-11: LD27.0Y ICD-10: Q82.4 MeSH: C565062 C565799 OMIM: 604292 |
| Reference | PMID:20944926 AUTHORS Trope BM, Salomao JN, Costa VD, Verde RB, Barros DS TITLE Do you know this syndrome? Ectrodactyly - ectodermal dysplasia - cleft lip/palate(EEC) syndrome. JOURNAL An Bras Dermatol 85:573-5 (2010) DOI:10.1590/S0365-05962010000400027 PMID:1261073 AUTHORS Rosenmann A, Shapira T, Cohen MM TITLE Ectrodactyly, ectodermal dysplasia and cleft palate (EEC syndrome). Report of a family and review of the literature. JOURNAL Clin Genet 9:347-53 (1976) DOI:10.1111/j.1399-0004.1976.tb01585.x PMID:10535733 AUTHORS Celli J, Duijf P, Hamel BC, Bamshad M, Kramer B, Smits AP, Newbury-Ecob R, Hennekam RC, Van Buggenhout G, van Haeringen A, Woods CG, van Essen AJ, de Waal R, Vriend G, Haber DA, Yang A, McKeon F, Brunner HG, van Bokhoven H TITLE Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. JOURNAL Cell 99:143-53 (1999) DOI:10.1016/S0092-8674(00)81646-3 |